Request an Appointment

Items Tagged ‘#Undiagnosed rare diseases’

As many as 25 million Americans – about 1 in 13 people – suffer from a rare, undiagnosed condition.* April 29 has been designated Undiagnosed Disease Day to raise awareness that collectively, rare diseases are relatively common. People with a rare disease often spend years visiting different medical providers and clinics seeking answers to unexplained […]

Karter Malcomson’s cherubic face, inquisitive eyes and wide smile are magnetic. Behind them is a two- year-old boy with a rare disease that’s generated more medical mysteries in his short life than many face in an entire lifetime. His circuitous journey to a diagnosis took his case before the Functional Genomics Team– the A team […]

New genomic technologies and discoveries are transforming medical care in ways that we have yet to fully understand. It’s no longer business as usual. Physicians are seeing new approaches to many aspects of daily medical care, such as ordering genetic tests, choosing pain management therapies or prescribing medications. For example, both physicians and patients may […]

“Desperate for answers,” – that is how William Gahl, M.D., Ph.D., has described many of the patients and families he sees with puzzling disorders. Dr. Gahl is clinical director of the National Institutes of Health (NIH) Undiagnosed Diseases Program. The program aims to provide answers to patients who’ve been suffering for years with mysterious conditions […]

Approximately 30 million people in the United States suffer from rare diseases that may have a genetic basis, according to the Food and Drug Administration. Mayo Clinic Center for Individualized Medicine investigators are expanding their efforts to help these patients by participating in the Undiagnosed Diseases Network International (UDNI). This international research network is aimed […]